Historical Perspective
Congenital malformations:
a historical perspective in a Mediterranean community
Charles Savona-Ventura
Introduction
The Period of Superstitious Belief
Many important discoveries have been made in the
last five decades in the field of hereditary mechanisms,
environmental teratogenesis, prenatal diagnosis and medical/
surgical management of affected individuals with congenital
malformations. The Maltese group of islands occupies a
central position in the Mediterranean, being only 93 km away
from Sicily and 290 km from Northern Africa. This location
made the Islands an important meeting place for the various
Mediterranean cultures throughout the ages. The history of
malformations in the Maltese Islands reflects the cultural
links with the mainland Mediterranean. The attitude towards
congenital malformations can be divided into two periods - the
Period of Superstitious Belief which reflected primitive man’s
concepts and prevailed to at least the 17th century; and the Period
of Modern Thought which began during the 18th century but
made the most progress during the twentieth century.
Congenital malformations causing deformities have been
described since early times. Primitive man’s interest in these
phenomena has found expression in drawings, carvings and
sculptures throughout the world including Australia, the South
Pacific Islands, and the Americas. Written records of congenital
malformations have come down from Babylon in the form
of clay tablets from the Royal Library of Nineveh which was
assembled by the Assyrian King Asshurbanipal (c.700 BC).
These tablets include a list of sixty-two human malformations
with their associated prophetic implications.1,2 It is believed
that these records date back to 4000 BC. Direct evidence of
congenital malformations in primitive cultures were found in
skeletal remains of affected individuals, such as a specimen of
an open sacrum and a femur described from Neolithic France
with changes suggestive of congenital dislocation of the hip.3
The first treatise on monsters appeared in the sixth century AD
by Isidore of Seville who described numerous abnormalities
and tried to give natural reasons for their occurrence, although
supernatural causes were not discounted. From the mid-16th
to the mid-17th centuries, several books on monstrous births
were published and a number of authors published a variety of
collections of such births and discussions on their cause.4
The Maltese skeletal archaeological record shows evidence
of congenital abnormalities which date to the Palaeolithic era,
circa 18,000 years ago. Two teeth with taurodontism were found
in association with remains of Cervus (deer).5 Taurodontism
was a common feature in Homo neanderthalis, but in a minor
form is also found in modern man, particularly in association
with genetic anomalies such as the presence of an extra X or
chromosome 21 and Prader Willi syndrome. Neolithic skeletal
remains excavated from Brochtorff Circle at Xaghra (Gozo)
have identified other congenital skeletal malformations and
non pathological anomalies.
These malformations include a case of a sacral spina bifida
in Tarxien Phase material. Other abnormalities include absence
of the sagittal suture in a skull from Hal Saflieni Hypogeum
(Malta). 6 The earliest depicted congenital malformations
in Malta date from the Neolithic era and include cases of
abnormalities of the hand: one with three digits and one with
six digits. These representations were discovered in an incised
decoration from Gzibbu Tombs at Zebbug (Malta) and a statuette
from Hagar Qim. Polydactyly is also evident in a hand print
described from the Hal Saflieni Hypogeum.6-8
Keywords
Malta, Gozo, malformations, anomalies, history
Charles Savona-Ventura MD, DScMed
Department of Obstetrics & Gynaecology
Faculty of Medicine & Surgery, University of Malta
Email: charles.savona-ventura@um.edu.mt
52
Malta Medical Journal Volume 19 Issue 01 March 2007
Other skeletal remains showing congenital anomalies were
excavated from Roman tombs. This included a non-pathological
anatomical variation of the sacrum. Here the transverse process
of the first sacral vertebra was not fused with the rest of the bone.
In addition two adult skulls from St. Agatha Catacombs showed
features of non-union of the frontal bones.9,10 The archaeological
skeletal record also describes a number of late medieval/early
modern congenital anomalies from excavations of burials in
Maltese churches. These skeletal anomalies included diverse
sacral anomalies including a case of spina bifida and other minor
anatomical variations.11,12
The written records of the hospitallier period furnish a
number of descriptions of congenital malformations which
appeared before the Episcopal court, the Inquisitional
Tribunal or the Civil Courts. The first congenital malformation
described in Malta dates to 1542, a case of severe male genital
malformation (hypospadias) which appeared before the
Episcopal Court as a case for marriage annulment. Another case
of severe hypospadias was described in 1744 in the Law courts
for the legal change of sex registration.13,14 In 1630 a description
of an abnormal infant was submitted by the midwife Oliveria
Gambino to the Episcopal Court to justify why a stillborn was not
buried in consecrated ground. The description suggests that the
parturient mother gave birth to two macerated monsters - one
with human and the other with avian features.15
The theory of supernatural causes for the development
of congenital malformations held sway from prehistoric time
well into the seventeenth century. Congenital malformations
in the various cultures and religions were often regarded as a
punishment from the gods. With the advent of Christianity to the
Islands, fetal anomalies were believed to originate along biblical
beliefs by copulation between a woman and a male beast or
between a woman and the devil. The birth and death of a grossly
malformed infant or monster posed an intriguing quandary to
the canonists. The officiating priest was enjoined to examine the
monster to ascertain that its principal parts, namely the head
and chest, had a human configuration. If they did, the infant was
baptised, but if the head was that of an animal and the limbs
those of a human, the creature was baptised sub conditione si
es homo ego te baptizo. As late as the mid-nineteenth century
canonists were still debating the religious issues raised by the
birth of monsters. In their conclusions they were swayed by
the conviction that these deformed beings were the result of
copulation between a woman and a male beast or devil.16 The
belief was prevalent in 17th century Malta that consort with
the devil in an assumed form was possible. In 1647, 17-year
old Gertrude Navarre accused herself before the Inquisitional
Tribunal of having over the previous six years had carnal
relations with men and animals brought to her by the devil. She
became pregnant and procured abortion on several occasions.17
In 1676, a Maltese physician’s wife accused herself of having
invoked the devil and invited him to have sexual relations with
her if he destroyed her husband.14
Another aetiological theory was that of maternal impressions
i.e. states of mind, affecting fetal development. However,
Malta Medical Journal Volume 19 Issue 01 March 2007
John Hunter presented scientific evidence against maternal
impressions in the late 18 th century. 4 In Malta maternal
impressions were also considered important aetiological factors.
In the 1749, the Maltese physician Dr. Salvatore Bernard
adhered to the theory that the fantasy organ of the pregnant
woman communicated by means of animal spirits with the
fantasy organ of the foetus, so that any perception aroused in the
mother’s mind produced a similar impression in the fetal brain,
which impression in turn reacted upon and moulded the form
of its body. Dr. Bernard held that monsters having the shape of
animals and devils were born to women who, during pregnancy,
had been exposed to the sight of these creatures.18,19 These beliefs
remained ingrained in Maltese mentality until relatively recent
times, and many congenitally malformed individuals were
kept hidden away from view by their families. A special hazard
of pregnancy was the emergence of longings or desires which
could not be satisfied. According to popular belief, the new-born
will manifest a birth-mark resembling in form and colour the
object of the unfulfilled desire. If a person neglects to satisfy
the wishes of a pregnant woman, he/she would be punished by
suffering from a stye.20,21 This view was not universal. In 1804,
Dr. Francisco Butigiec did not share the notion that “in an
alteration of imagination which affected the foetus in such a
way as to produce a defective baby or a monstrosity”.22,23
The Period of Modern Thought
Modern science was born in the 15th and 16th centuries during
the Italian renaissance. The Renaissance initiated a process,
which during the eighteenth century, saw the beginnings of
modern attitudes towards the aetiology of malformations. The
developmental arrest theory of teratogenesis was first developed
by William Harvey (1651) who reasoned that cleft lip in human
infants was very similar to the normal situation found in early
embryos. This concept was extended to explain ectopia cordis
and gastroschisis. Although not totally understood, inherited
anomalies had been recognised by Ambroise Pare (1649) and
John Hunter (1775). However the genetic theory as a cause of
malformations gained momentum when the inheritance laws
described by Gregor Johann Mendel (1865) were rediscovered
in 1900 by Carl Correns, Hugo de Vries, and Erich von
Tschermak.24
In Malta, superstitious concepts regarding the aetiology of
congenital malformations apparently persisted well into the
eighteenth century, though an academic interest in the condition
was being taken by medical practitioners. A case of severe
malformation was described in 1788 by Dr Saverio Fenech. The
report records the birth of a monster born to a woman at Nadur.
The child had a head and ears which resembled those of a cat.
The upper limbs were human-like but without articulations,
the hands being similar to those of a cat. The genital parts
were also similar to those of a female cat. The attention given
to the description, together with the added comment that the
attending priest considered these characters as conforming more
to a human form requiring Christian burial suggests that the
religious concepts regarding malformations were still prevalent.
53
This was not surprising since these concepts remained prevalent
until the early decades of the twentieth century.14 Medical publications in Malta during the nineteenth
century do not shed light on the beliefs prevalent among
Maltese practitioners regarding the aetiology of congenital
malformations. However, the description of a Maltese family in
1891 with a genetic predisposition to having twenty-four digits
suggests that the hereditary theory was being entertained for
at least some anomalies.25
Other cases of malformation were described for academic
purposes by medical practitioners during the nineteenth
century. A case describing the internal and external features of
conjoined twins with one head was described in 1816,26 while
further cases of malformed babies born in Malta were published
in the 1840s.27-29 A case of obstructed labour resulting from
fetal gross enlargement of the liver due to malformation was
described in 1891. The infant also had a cervical spina bifida
and extra digits.25 Prof Giuseppi Schembri in 1896 referred to
malformations which may occur, including conjoined twinning
with head fusion and union by the chests, or by the pelvis giving
rise to two complete trunks with two or four legs. He also listed
a number of malformations that could be met by midwives,
including atresia of the rectum, ears, and urethra; hypospadias;
harelip and cleft palate; congenital protrusion of bowels within
the naval string; conjoined or supernumerary fingers or toes;
club foot; spina bifida situated at the neck and the lumbar
region; hydrocele; port-wine stains, mother’s marks, moles,
and tongue tie.30
There is evidence of a three-legged conjoined twin who
lived in Malta for some time in the early twentieth century.
Photographs taken in Malta of a seven to nine year old child
with this anomaly have been found among the belongings of
Professor Ruggiero Busuttil. The origins of this child remain
unknown, and it has been suggested that the child may have
been the same three-legged Francisco Lentini who was born
in Sicily in 1889 and who later emigrated to America where he
joined a number of circuses.31
Further to the list given by Prof Schembri in his lecture
notes to midwives in 1896, there is to date no further identifiable
historical material which deals with the epidemiology of
abnormalities. Published mortality data suggests that in 1896,
malformations accounted for a total of 76 deaths resulting in a
specific mortality rate of about 43.1 per 100,000 population. All
of these deaths occurred in children under five years of age. The
number of deaths from malformations apparently decreased in
the first decade of the twentieth century to eventually maintain
an annual fluctuation around 8.5 per 100,000 population in the
1920s. The specific mortality rate from congenital malformations
started to rise just prior to the Second World War to peak to a
value of about 18 per 100,000 population in the 1950s. After
the 1950s, the specific mortality rate fell progressively to reach
mean values of about 7 per 100,000 population in the 1980s.
The majority of these deaths occurred in childhood so that the
54
annual childhood mortality rate from congenital malformations
during 1981-85 was 54.2 per 10,000 total births. The larger
proportion of these deaths throughout the years was caused
by congenital heart lesions, with the second commoner group
of malformations being abnormalities of the central nervous
system including hydrocephalus and spina bifida.32-35
While a number of studies had been undertaken by
individual clinicians in Malta on specific congenital disorders,3639
epidemiological study of congenital malformations in Malta
was seriously initiated in the early 1980s. This lack of data is not
surprising in view of the fact that before the First International
Conference on Congenital Malformations in 1960, there were
very few studies in the world literature on incidence of congenital
malformations.40,41
A small preliminary survey of congenital anomalies in
live-born Maltese children was performed in 1972 reporting
20 anomalies in a total of 1016 consecutive births.42 In 1983,
a computerised database was initiated by the Department of
Obstetrics and Gynaecology in order to allow the registration
of all births at Karen Grech Hospital. This database allowed a
number of epidemiological studies to be initiated. Malformations
were shown during 1983-1986 to occur in about 3.5% of all
births, with minor malformations accounting for about 77%
of all malformations. While minor malformations were shown
to be approximately the same in all age groups, the major
malformation rate increased with increasing maternal age.43 A
further database was initiated after 1986 by the Departments
of Genetics and Obstetrics-Gynaecology in conjunction with
the EUROCAT Project. This project is a concerted action of the
European Union in the epidemiology of congenital anomalies.
The EUROCAT data base initiated in 1978 has indicated that the
malformation rates in Europe should range from a minimum of
0.9% to a maximum of 4.6%. The EUROCAT project has further
shown that the incidence of anomalies caused by chromosomal
problems in Europe varied in incidence from 9.4 - 22.3 per
10,000 total births. Of all the registered cases, approximately
74% were Down Syndrome.44 In Malta during the period 198387, the prevalence of chromosomal abnormalities was estimated
at 22.0 per 10,000 births or a frequency at 1:434. The prevalence
of Down Syndrome in Malta was estimated at 18.8 per 10,000
births (frequency 1:532) or 85.5% of chromosomal anomalies
diagnosed. The frequency of Down Syndrome was markedly
higher in older mothers. The lowest risk of occurrence appears
to be in the 25-34 year age group, and it is approximately three
times higher in mothers below 20 years and 25-30 times higher
in the 40-45 years age group.45-47
The last decade has seen further efforts at epidemiological
studies with the continuation of the EUROCAT Project and the
establishment of the Malta Congenital Anomalies Register, and
the initiation of several databases to assess the incidence and
prevalence of specific congenital malformations particularly
thalassaemia (Laboratory of Molecular Genetics) and congenital
heart disease (Maltese Paediatric Cardiology Database).
Malta Medical Journal Volume 19 Issue 01 March 2007
References
1. Brodsky I. Congenital abnormalities, tetratology and embryology:
Some evidence of primitive man’s knowledge as expressed in art
and lore in Oceania. Med J Australia 1943;1:417.
2. Warkany J. Congenital malformations in the past. J Chron Dis
1959;10:84-96.
3. Sigerist HE. A History of Medicine. 1: Primitive and Archaic
Medicine. New York;Oxford University Press, 1967: 45-50,54,57-8
4. Barrow MV. A brief history of teratology to the early twentieth
century. Teratology 1971;4:119-30.
5. Mifsud A, Mifsud S. Dossier Malta. Evidence for the Magdalenian.
Malta;Proprint, 1997.
6. Savona-Ventura C, Mifsud A. Prehistoric Medicine in Malta.
Malta;Proprint, 1999.
7. Pace JL. The Anatomical features of Prehistoric Man in Malta.
Malta;The University of Malta, 1972:14.
8. Zammit T, Singer C. Neolithic representation of the human form
from the Islands of Malta and Gozo. J Roy Anthropol Inst 1924,
LIV:81.
9. Cassar P. Medical History of Malta. London;Wellcome Hist Med
Libr, 1964: 8-9.
10.Savona-Ventura C, Mifsud A, Camilleri V. The
Anthropomorphology of Classical Skulls from Malta. the Oracle:
Journal of the Grupp Arkeologiku Malti, 2000, 1:3-7.
11. Pace JL, Ramaswamy S. The Finds: Skeletal remains. In: Blagg
TFC, Bonanno A, Lutrell AT, ed. Excavations at Hal Millieri,
Malta: a report of the 1977 campaign conducted on behalf of
the National Museum of Malta and the University of Malta.
Malta;University Press, 1990;84-95.
12.Ramaswamy S, Pace JL. The Medieval skeletal remains from St.
Gregory’s Church at Zejtun (Malta). Part 1. Paleopathological
Studies. Arch Ital Anat Embriol 1979;LXXXIV(1):43-53
13.Cassar P. A medico-legal report of the sixteenth century from
Malta. Medical History 1974;18:354-9.
14.Cassar P. Change of sex sanctioned by a Maltese law court in the
eighteenth century. BMJ 1954;2:1413.
15.Cassar P. The birth of monsters in the Maltese Islands in the 17th
and 18th century. Mediscope 1983;1:6-9.
16.Savona-Ventura C. The influence of the Roman Catholic Church
on Midwifery Practice in Malta. Medical History 1995;39:25-6
17.Bonnici A Maltin u l-Inkizzjoni f’nofs is-seklu sbatax. Malta;Klabb
Kotba Maltin, 1977;102-4,199-200.
18.Bernard S. Trattato filosofico-medico dell’uomo. Catania, 1749
19.Cassar P. The Neuro-psychological concepts of Dr. S. Bernard.
Scientia 1949;15:29.
20.Cassar Pullicino J. Studies in Maltese Folklore. Malta;University
Press, 1992;213-5.
21.Cassar P. Pregnancy and birth in Maltese tradition. Chestpiece
1975:25.
22.Bardon S. Trattato Dell’Arte Ostetrica dettato e spiegato dal
Perille Signo Dr. Francesco Butigiec nello Studio Publico del
Grand’Ospedale Nazionale de’ Maltesi. Principiato li 18 ottobre
1804. Manuscript lecture notes, +247fols.
23.Cassar P Teaching of Midwifery in Malta at the beginning of the
19th century. St. Luke’s Hosp Gaz 1973;8:91-111.
24.Sturtevant AH. A history of genetics. New York;Harper & Row,
1965;9-32.
25.Gulia G. Di un caso di distocia per volume esagerato del fegato
fetale - Monstruosita` ed anomalia del bambino. La Rivista
Medica, 30 September 1891, Anno II(14):8.
Malta Medical Journal Volume 19 Issue 01 March 2007
26.Anon. An account of a monstrous fetus born in Malta in 1816. No
place or date of publication. C.1816.
27.Anon. Il Portafoglio Maltese, 13 April 1840, p.851.
28.Anon. Il Portafoglio Maltese , 5 June 1843, p.2247.
29.Anon. Storia della societa’ medica d’incorraggiamento di Malta.
1845;xxxiv,6,52,255.
30.Schembri GB The Midwife’s Guide Book. Malta; Government
Printing Office, 1896, 76.
31.Mizzi C Il-misteru dwar it-tifel bi tliet saqajn. It-Torca, 15 April
1990, 14-15;22 April 1990, 14-15,24.
32.P.H.D.: Return of Deaths in Malta and Gozo. Malta Government
Gazette, 1872-1896 [fortnightly reports published by the Public
Health Department].
33.D.O.H. Annual Reports on the Health Conditions of the
Maltese Islands and on the work of the Medical and Health
Department for the years 1896-1970. [annual publications
published as supplements of the Malta Government Gazette or as
Departmental publications], 1897-1971.
34.C.O.S. . Demographic Review of the Maltese Islands 1960-1994.
Malta;Central Office of Statistics [annual publications], 1961-1996
35.Savona-Ventura C, Grech V. Congenital malformations in a
central Mediterranean island. Int J Risk Safety Med 1997;10:31-9
36.Cachia EA, Fenech F. Incidence of congenital pyloris stenosis in
Malta. J Med Genet 1966;3:49.
37.Cassar P. Huntington’s Chorea, with special reference to its
incidence in Malta. St. Luke’s Hospital Gazette 1967;2:3-13
38.Cauchi MN. Glucose-6-Phosphate Deficiency in Malta - A
Preliminary Study. St. Luke’s Hospital Gazette 1968;3:30-3
39.Vella F. The frequency of Thalassaemia minor in the Maltese
Islands. Acta Haematologica 1962;27:278.
40.Kennedy WP: Epidemiologic aspects of the problem of congenital
malformations. Birth Defects Orig. Artic. Ser. 1967;3:1-18.
41.Lamy M, Frezal J. The frequency of congenital malformations.
First International Conference on Congenital Malformations.
Philadelphia;Lippincott 1960: 34-44.
42.Jaccarini CJ, Vassallo-Agius P. Congenital malformations survey.
A preliminary report. St. Luke’s Hospital Gazette 1972;7:25-9.
43.Grech ES, Savona-Ventura C, eds. Proceedings: European Study
Group on Social Aspects of human Reproduction. V Annual
meeting, Malta, September 1987. Malta Government Press, n.d.,
[1988].
44.Wals De, P;Dolk H, Weatherall JAC, et al. Prevalence of congenital
anomalies in 19 EUROCAT countries, 1979-1982. In: De Wals
P, Weatherall JAC, Lechat MF, eds. Registration of congenital
anomalies in EUROCAT Centres 1979-1983. Belgium;Cabay, 1985:
146-202.
45.Cuschieri A, 1987: Registration of congenital anomalies in Malta.
In: De Wals P, Lechat MF, eds. EURCAT Report 2: surveillance
of congenital anomalies years 1980-1984. Belgium;Catholic
University of Leuven, 1987: 243-8.
46.Cuschieri A, Gauci S. A Survey of Chromosomal Anomalies in
Malta. Maltese Medical Journal 1988;1:38-43.
47.Cuschieri A, 1993: A survey of Congenital Anomalies in Malta.
In: R. Ellul-Micallef, S. Fiorini, eds. Collected Papers published
on the occasion of the Collegium Melitense Quatercentenary
Celebrations (1592-1992). Malta: University of Malta,
1993: 221-44.
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